(Q43146130)

14 November 2017

Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes (English)

1 reference

14 November 2017

1 reference

hyperphenylalaninemia

1 reference

D DiSilvestre

1

1 reference

14 November 2017

R Koch

series ordinal

2

1 reference

14 November 2017

J Groffen

series ordinal

3

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 May 1991

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

48

1 reference

14 November 2017

5

1 reference

14 November 2017

1014-1016

1 reference

Clinical and biochemical observations of patients with atypical phenylketonuria

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683043

Atypical cases of phenylketonuria

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683043

Molecular basis and population genetics of phenylketonuria

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683043

DNA haplotype analyses of patients with hyperphenylalaninemia

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683043

A hypervariable RFLP within the ABR gene

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683043

Recurrent mutation, gene conversion, or recombination at the human phenylalanine hydroxylase locus: evidence in French-Canadians and a catalog of mutations

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1683043

Diagnosis in relationship to treatment of hyperphenylalaninaemia

25 May 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2018035

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Prenatal diagnosis of classic phenylketonuria by DNA analysis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/2018035

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

14 November 2017

1 reference